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    HRG histidine rich glycoprotein [ Homo sapiens (human) ]

    Gene ID: 3273, updated on 13-May-2024

    Summary

    Official Symbol
    HRGprovided by HGNC
    Official Full Name
    histidine rich glycoproteinprovided by HGNC
    Primary source
    HGNC:HGNC:5181
    See related
    Ensembl:ENSG00000113905 MIM:142640; AllianceGenome:HGNC:5181
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HPRG; HRGP; THPH11
    Summary
    This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]
    Expression
    Restricted expression toward liver (RPKM 1677.7) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    3q27.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186666014..186678234)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189487766..189499996)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186383803..186396023)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene alpha 2-HS glycoprotein Neighboring gene fetuin B Neighboring gene HRG and FETUB antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:186375416-186375935 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:186380938-186381618 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:186386725-186387924 Neighboring gene HRG pseudogene 1 Neighboring gene HRG pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
    MedGen: C2751090 OMIM: 613116 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
    EBI GWAS Catalog
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp779H1622

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heparan sulfate proteoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables immunoglobulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytolysis by host of symbiont cells IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to fungus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fibrinolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of blood vessel endothelial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of endothelial cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of fibrinolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of lamellipodium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of vascular endothelial growth factor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in platelet activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of blood vessel remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of focal adhesion assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of immune response to tumor cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of platelet activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of platelet activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    histidine-rich glycoprotein
    Names
    histidine-proline-rich glycoprotein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021485.2 RefSeqGene

      Range
      10737..23025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_601

    mRNA and Protein(s)

    1. NM_000412.5NP_000403.1  histidine-rich glycoprotein precursor

      See identical proteins and their annotated locations for NP_000403.1

      Status: REVIEWED

      Source sequence(s)
      AI800281, BC150591
      Consensus CDS
      CCDS3280.1
      UniProtKB/Swiss-Prot
      B9EK35, D3DNU7, P04196
      UniProtKB/TrEMBL
      B2R8I2
      Related
      ENSP00000232003.4, ENST00000232003.5
      Conserved Domains (1) summary
      smart00043
      Location:21127
      CY; Cystatin-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      186666014..186678234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247415.5XP_005247472.1  histidine-rich glycoprotein isoform X1

      UniProtKB/TrEMBL
      B2R8I2
      Conserved Domains (1) summary
      smart00043
      Location:21127
      CY; Cystatin-like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      189487766..189499996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346411.1XP_054202386.1  histidine-rich glycoprotein isoform X1